Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285488_40285489del , CM000681.2:g.40285488_40285489del | GRCh38 |
| NC_000019.9:g.40791395_40791396del , CM000681.1:g.40791395_40791396del | GRCh37 |
| NC_000019.8:g.45483235_45483236del | NCBI36 |
| NG_012038.2:g.4872_4873del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000578123.5:c.-124_-123del | ENSP00000462022.1:n.-124_-123del | |
| XM_011526620.1:c.-124_-123del | XP_011524922.1:n.-124_-123del |